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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:corpus callosum agenesis-abnormal genitalia syndrome
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Accession:DOID:0112151 term browser browse the term
Definition:A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. (DO)
Synonyms:exact_synonym: ACC with abnormal genitalia;   ACC-abnormal genitalia syndrome;   Proud Syndrome;   Proud-Levine-Carpenter syndrome;   agenesis of corpus callosum with abnormal genitalia;   corpus callosum agenesis with abnormal genitalia;   microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
 primary_id: MESH:C563110
 alt_id: DOID:9005060;   OMIM:300004
 xref: GARD:4528;   ORDO:2508
For additional species annotation, visit the Alliance of Genome Resources.


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corpus callosum agenesis-abnormal genitalia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Proud Levine Carpenter syndrome OMIM
ClinVar
PMID:1605226 PMID:14722918 PMID:18414213 PMID:22252899 PMID:25741868 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      corpus callosum agenesis-abnormal genitalia syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  intellectual disability 2163
                    corpus callosum agenesis-abnormal genitalia syndrome 1
paths to the root